This is with reference to
the article published in Indian Pediatrics titled "Duchenne
Muscular Dystrophy in a female child"(1). However, the diagnostic
work up is rather incomplete. Whether a DNA analysis was performed and
what did the immunocytochemistry of the muscle biopsy show are important
to make a diagnosis of the type of muscular dystrophy(2). The muscle
immunocytochemistry is regularly being performed at NIMHANS and the DNA
for Duchenne muscular dystrophy at Centre for Cellular and molecular
Biology, Hyderabad. We should utilize the expertise of such institutions
in order to make a final diagnosis.

In the present case, the
clinical picture and the family history of both sexes being affected
suggests a diagnosis of Severe Childhood Autosomal Recessive Muscular
Dystrophy (SCARMD), rather than Duchenne Muscular dystrophy.

SCARMD is a rapidly
progressive disease particularly predominant in North Africa and
Tunisia(3). The age of onset ranges from 3 to 12 years. The clinical
severity varies and three groups are identified-one with onset between 3
to 8 years and loss of ambulation between 10 to 15 years, a second onset
between 4 to 9 years with loss of ambulation between 15 to 20 years, and
a third with onset between 4 to 12 years and loss of ambulation between
20 to 30 years(4). Molecular genetic studies showed normal expression of
dystrophin but selective loss of 50 KD dystrophin associated
glycoprotein (50 DAG)(5). The French group identified the same problem
amongst Europeans and called the protein Adhalin(6).

Linkage studies have
shown that some of the SCARMD families with 50 DAG deficiency may
localize to 13q although there may be additional genes which are
responsible for causing the deficiency of 50 DAG(7). It is also
interesting to note that cardiac involvement is not a usual feature of
SCARMD. It is difficult to prognosticate in this disease and needs to
depend on the individual case. As the condition is usually inherited
through an autosomal recessive mechanism both parents are heterozygote
carriers and there is a 25% risk of any further child being similarly
affected.

Our experience and that
of our friends in Bombay suggests that the SCARMD in India appear not to
have deficiency of alpha sarcoglycan (adhalin) as seen in the Europeans
but in beta or gamma sarcoglycan. We have too few cases to arrive at a
conclusion at one center and therefore this requires a cooperative
effort to establish the facts. We in MDA India, a parent support group,
have been dealing with children with muscular dystrophy for sometime now
and would certainly be happy to interact with anyone wanting to pursue
research into muscular dystrophies.